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  3. POU2AF1
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Predominantly Antibody Deficiency

Gene: POU2AF1

Amber List (moderate evidence)
POU2AF1 (POU class 2 associating factor 1)
EnsemblGeneIds (GRCh38): ENSG00000110777
EnsemblGeneIds (GRCh37): ENSG00000110777
OMIM: 601206, Gene2Phenotype
POU2AF1 is in 2 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single case has been reported and a supporting null mouse model.
https://search.clinicalgenome.org/CCID:005865
Created: 11 Nov 2024, 8:49 p.m. | Last Modified: 11 Nov 2024, 8:51 p.m.
Panel Version: 0.146

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agammaglobulinemia MONDO:0015977

Publications

Created: 11 Nov 2024, 8:49 p.m.
Last Modified: 11 Nov 2024, 8:51 p.m.
Panel version: 0.145

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual from consanguineous parents lacking immunoglobulins despite normal total B-cell numbers.
Sources: Expert Review
Created: 13 Jul 2022, 9:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agammaglobulinaemia, MONDO:0015977, POU2AF1-related

Publications

Created: 13 Jul 2022, 9:07 a.m.

Panel version: Imported from Mendeliome panel version 1.110

Peter McNaughton (Queensland Children's Hospital)

Red List (low evidence)

Single patient from consanguineous parents lacking immunoglobulins despite normal total B-cell numbers.
Sources: Literature
Created: 12 Jul 2022, 5:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agammaglobulinaemia

Publications

Created: 12 Jul 2022, 5:48 a.m.

Panel version: 0.110

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Agammaglobulinaemia, MONDO:0015977, POU2AF1-related
OMIM
601206
Clinvar variants
Variants in POU2AF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pou2af1 has been classified as Amber List (Moderate Evidence).

13 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pou2af1 has been classified as Red List (Low Evidence).

13 Jul 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POU2AF1 were changed from Agammaglobulinaemia to Agammaglobulinaemia, MONDO:0015977, POU2AF1-related

13 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pou2af1 has been classified as Red List (Low Evidence).

12 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Peter McNaughton (Queensland Children's Hospital)

gene: POU2AF1 was added gene: POU2AF1 was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: POU2AF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POU2AF1 were set to PMID: 33571536 Phenotypes for gene: POU2AF1 were set to Agammaglobulinaemia Review for gene: POU2AF1 was set to RED